Overview

Congenital erythropoietic porphyria (CEP) is the rarest porphyria and is commonly seen in infancy, although it may begin in adulthood.[1] It is characterized by severe skin photosensitivitythat may lead to scarring, blistering, and increased hair growth at the face and back of the hands.[2][3] Photosensitivity and infection may cause the loss of fingers and facial features.[1] Symptoms of CEPrange from mild to severeand may include hypertrichosis, reddish discoloration of the teeth, anemia, and reddish-colored urine.[4] In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow.[3][4] This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms.[3] Treatment for CEP may include activated charcoal or a bone marrow transplant, which can improve the anemia and future blister or scar formations from photosensitivity.[2][1]Blood transfusions or spleen removal may also reduce the amount of porphyrin produced from bone marrow. [1] This condition is inherited in an autosomal recessive fashion and is caused by mutations in the UROS gene.[3]

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